A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5540356



Internal ID315143
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:37464786..37469727hg38UCSC Ensembl
chr22:37860824..37865765hg19UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg384942
hg194942
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17728836
Samples
Known GenesMFNG
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5540356
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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